Gene ReportsPub Date : 2025-08-09DOI: 10.1016/j.genrep.2025.102315
Safa Alshattawi , Rand Moushtaq Taleb , Ghanyia Jasim shanyoor , Mohanad K. Aneed Al-Saedi , Maryam Qasim Mohammed
{"title":"Linking inflammation to gene expression: Insights from GPR65, NUAK2, and OPG in ankylosing spondylitis","authors":"Safa Alshattawi , Rand Moushtaq Taleb , Ghanyia Jasim shanyoor , Mohanad K. Aneed Al-Saedi , Maryam Qasim Mohammed","doi":"10.1016/j.genrep.2025.102315","DOIUrl":"10.1016/j.genrep.2025.102315","url":null,"abstract":"<div><h3>Background</h3><div>Ankylosing spondylitis (AS) is a chronic inflammatory disease that primarily affects the spine, leading to joint inflammation. Gene expression plays a pivotal role in the pathogenesis of AS, and understanding its underlying genetic mechanisms may enhance both diagnostic accuracy and therapeutic strategies. This study aimed to evaluate the gene expression levels of <em>GPR65</em> and <em>NUAK2</em>, along with the protein level of Osteoprotegerin (OPG), in Iraqi individuals diagnosed with AS.</div></div><div><h3>Methods</h3><div>A case-control study was conducted, involving 50 patients with AS and 50 healthy controls. Blood samples were collected to assess the erythrocyte sedimentation rate (ESR), while serum levels of C-reactive protein (CRP) and OPG were measured using ELISA. Total RNA was extracted using a specialized kit, followed by cDNA synthesis and quantitative real-time PCR (qRT-PCR) to analyze the expression levels of GPR65 and NUAK2.</div></div><div><h3>Results</h3><div>The findings revealed a significant increase in OPG levels (p < 0.001**) and <em>GPR65</em> expression (p < 0.001**), alongside a downregulation of <em>NUAK2</em> expression (p = 0.05*) in AS patients compared to healthy controls.</div></div><div><h3>Conclusions</h3><div>These results suggest that elevated OPG levels and increased <em>GPR65</em> expression may contribute to the inflammatory processes in AS, whereas reduced <em>NUAK2</em> expression might impair the regulation of inflammation. Furthermore, OPG, <em>GPR65</em>, and <em>NUAK2</em> exhibited strong diagnostic potential, with high specificity and sensitivity demonstrated through ROC analysis. The OPG and <em>GPR65</em> may enhance the diagnosis and monitoring of AS and underscore the need for further research into their roles in disease progression and as potential targets for therapy.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102315"},"PeriodicalIF":0.9,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144826668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"In-silico analysis and functional evaluation of regulatory FH gene polymorphism (rs1414493) in breast cancer patients","authors":"Rhuthuparna Malayil , Tashvinder Singh , Amitha Thankachan , Yogita Chhichholiya , Anjana Munshi , Sandeep Singh","doi":"10.1016/j.genrep.2025.102316","DOIUrl":"10.1016/j.genrep.2025.102316","url":null,"abstract":"<div><div>Metabolic reprogramming is a hallmark of cancer, driven in part by the metabolic plasticity of tumor cells. Understanding the mechanisms underlying this plasticity is critical to elucidating its role in breast cancer development. In this study, we investigated the genetic variation in the fumarate hydratase (FH) enzyme, focusing on the single nucleotide polymorphism (SNP) rs1414493, and its association with breast cancer. FH is a key metabolic enzyme that also functions as a tumor suppressor. The SNP is located in the transcription factor binding sites of the regulatory region of FH. Previously, this variant was reported to promote overall survival in Lung cancer. Our analysis revealed a high frequency of the rs1414493 variant in breast cancer patients from the Malwa region of Punjab. However, no significant association was observed between this SNP and breast cancer risk, based on genotype and allele distributions (P = 0.78 and P = 0.32, respectively). Despite this, in-silico analyses suggested that rs1414493, located in the distal promoter region of FH, may influence breast cancer metabolism. Specifically, our findings indicate the presence of a novel binding site for the transcription factor GATA1 at this SNP location. We hypothesize that FH and GATA1 may act as interdependent factors contributing to breast cancer susceptibility. Further investigation into the role of GATA1 in breast cancer is warranted, particularly in the context of its potential impact on cancer cell metabolism.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102316"},"PeriodicalIF":0.9,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144840989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic variation of white spot syndrome virus (WSSV) envelope protein VP28 influences its adaptivity in shrimps","authors":"SiouNing Aileen See , Subha Bhassu , Swee Seong Tang , Khatijah Yusoff","doi":"10.1016/j.genrep.2025.102310","DOIUrl":"10.1016/j.genrep.2025.102310","url":null,"abstract":"<div><div>White spot syndrome virus (WSSV) is a significant viral pathogen in aquaculture leading to substantial economic loss. A comprehensive understanding of WSSV transmission, adaptation, and the mechanisms underlying shrimp survival and resistance is crucial. In this study, VP28 envelope protein gene from Malaysian WSSV isolates was sequenced and analysed using phylogenetic methods. The analysis revealed that VP28 gene shared over 87 % identity with other known WSSV isolates, as determined by NCBI BLAST. Phylogenetic analysis highlighted amino acid (aa) substitution at positions 42nd, 136th, and 180th to 183rd between Malaysia strains and those from other countries, potentially impacting the structure of VP28 and contributing to viral adaptability. Comparative studies of the VP28 gene's nucleotide composition and codon usage bias shed light on the molecular evolution of WSSV and its adaptation to hosts. Notably, comparisons between the VP28 sequences of Malaysian isolates from 2020 and 2022 revealed contrasting patterns: the 2020 strain exhibited higher nucleotide identity, whereas the 2022 strain had greater peptide identity compared to published VP28 sequences. These differences suggest that genetic variation and virulence of VP28 in global outbreaks may be influenced by host-pathogen interactions, environmental factors and selective pressures. This study offers insights into the evolutionary forces shaping the WSSV genome.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102310"},"PeriodicalIF":0.9,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144860622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2025-08-07DOI: 10.1016/j.genrep.2025.102314
Mahintaj Dara , Mehdi Dianatpour , Negar Azarpira , Nader Tanideh
{"title":"The transformative role of Artificial Intelligence in genomics: Opportunities and challenges","authors":"Mahintaj Dara , Mehdi Dianatpour , Negar Azarpira , Nader Tanideh","doi":"10.1016/j.genrep.2025.102314","DOIUrl":"10.1016/j.genrep.2025.102314","url":null,"abstract":"<div><div>Artificial Intelligence (AI) is poised to revolutionize genomics, offering transformative opportunities while simultaneously presenting significant challenges. This review article explores the multifaceted integration of AI into genomic medicine, highlighting its potential to enhance genomic data analysis, improve disease diagnosis, and enable personalized treatment strategies. We discuss the advancements in machine learning and deep learning techniques that facilitate the identification of genetic variants, optimize genome sequencing, and predict disease outcomes by analyzing vast datasets. Despite these promising developments, the application of AI in genomics faces hurdles such as data quality issues, algorithmic bias, and ethical concerns regarding patient privacy and health disparities. Furthermore, the article addresses the need for robust regulatory frameworks to ensure the safe and effective implementation of AI technologies in clinical settings. By synthesizing current research and emerging applications, we aim to provide a comprehensive overview of the state of AI in genomics, emphasizing both the opportunities for innovation and the challenges that must be navigated to fully realize its potential in advancing genomic medicine.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102314"},"PeriodicalIF":0.9,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144826667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2025-08-05DOI: 10.1016/j.genrep.2025.102311
Murtada Alsiddig , Tarig Badri , Hind Widaa , Bojiang Li , Honglin Liu
{"title":"Single-nucleotide polymorphisms (SNPs) in sperm adhesion molecule 1 (SPAM1) gene are associated with egg production in Yangzhou geese","authors":"Murtada Alsiddig , Tarig Badri , Hind Widaa , Bojiang Li , Honglin Liu","doi":"10.1016/j.genrep.2025.102311","DOIUrl":"10.1016/j.genrep.2025.102311","url":null,"abstract":"<div><div>Sperm adhesion molecule 1(SPAM1) is a vital candidate gene that plays an important role in fertilization and hatchability of geese. In this study, we investigated for the first time the genetic variation of the SPAM1 gene and its association with egg production trait in Yangzhou geese. By using the direct sequencing technique, we detected three single nucleotide polymorphisms, g206 G>C, c123 T>A, and c159 T>C, located in the promoter and exon one regions, respectively. Six alleles and nine genotypes (GG, CC, GC, TT, TA, AA, TT, TC and CC) were obtained, respectively. The results indicated that the GG (g206 G>C) genotype had a significantly higher egg production rate during the 34-week egg-laying period. In the case of the SNPs c123 T > A and c159 T > C individuals with the AA and TT genotypes produced more eggs number, respectively. The SPAM 1 gene was highly expressed in the oviduct, abdominal fat, ovary and small intestine tissues. The mRNA expression level in the oviduct and ovary indicated that the geese with GG genotype recorded significantly lower expression levels (0.72 ± 0.02; 0.93 ± 0.02) compared to the geese with CC genotype (1.27 ± 0.19, 1.11 ± 0.06), respectively. Transcriptional activity results showed that both constructed vectors (pGL3-328G and pGL3-333C) had higher and more significant luciferase activity than the pGL3-basic vector. Future studies in Yangzhou and other native breeds of geese may be required to validate the association between these polymorphisms and egg production traits.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102311"},"PeriodicalIF":0.9,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144771853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2025-08-05DOI: 10.1016/j.genrep.2025.102309
Deliang Zhou , Jianli Liu , Wen Jin
{"title":"Determining the minimum functional length of k-mers: Evidence for the 7-mer threshold from yeast genome","authors":"Deliang Zhou , Jianli Liu , Wen Jin","doi":"10.1016/j.genrep.2025.102309","DOIUrl":"10.1016/j.genrep.2025.102309","url":null,"abstract":"<div><div>k-mers play an important role in the function and evolution of DNA sequences and should have a minimum functional length. Based on the analysis of (1) all core and linker DNA in yeast, and (2) all gene and intergenic sequences in yeast, the minimum functional length of k-mers was determined using the log-ratio of relative frequency. The following conclusions were obtained:<ul><li><span>(1)</span><span><div>7-mers represent the minimum functional length of the basic functional fragments of DNA sequences, while k-mers with <em>k</em> < 7 constitute the basic component fragments of DNA sequences;</div></span></li><li><span>(2)</span><span><div>7-mers are the minimum length k-mers that drive DNA sequences to produce sequence function and evolution;</div></span></li><li><span>(3)</span><span><div>7-mers are the minimum length k-mers that drive the separation of function and evolution among different types of sequences.</div></span></li></ul></div><div>These conclusions represent major theoretical breakthroughs and have significant implications: (1) They support the conclusion from Reference 24 that the minimum functional length of k-mers is 7, fully affirming the accuracy and reliability of this minimum functional length; (2) They elucidate the roles and characteristics of functional and component fragments of DNA sequences, revealing the driving force behind the generation and separation of DNA sequence function and evolution.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102309"},"PeriodicalIF":0.9,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Kinase regulation of DNA polymerase alpha - primase (polα-primase) complex: Inference from decade-long global phosphoproteomes","authors":"Aromal Monipillil Ajayakumar , Athira Perunelly Gopalakrishnan , Amal Fahma , Althaf Mahin , Suhail Subair , Prathik Basthikoppa Shivamurthy , Poornima Ramesh , Rajesh Raju","doi":"10.1016/j.genrep.2025.102312","DOIUrl":"10.1016/j.genrep.2025.102312","url":null,"abstract":"<div><div>DNA polymerase alpha - primase (polα-primase) complex is crucial for DNA replication, which is an association of catalytic (POLA1), regulatory (POLA2) and primase (PRIM1 and PRIM2) subunits. POLA1 extends the primers synthesized by the primase subunits, while POLA2 interacts with the replication factors including AND-1 and contributes to the assembly of replication machinery. This review presents a characterization of the kinase-mediated phosphoregulatory network regulating the polα-primase complex, with a specific focus on phosphorylation sites identified on POLA1. In addition, patterns of co-differential regulation among polα-primase subunits are discussed based on mass spectrometry-based phosphoproteomics data integration. The candidate upstream kinases potentially responsible for phosphorylating polα-primase complex are highlighted, drawing on current phosphorylation site–kinase mapping resources. These kinases modulate polα-primase complex activity in a site-specific manner, integrating its function into key cellular processes such as the DNA damage response, immune signaling, and oncogenic transformation. While substantial knowledge exists, particularly on global phosphoregulation, critical gaps remain especially in experimentally validated, site-specific functional studies of polα-primase complex phosphorylation. This review not only highlights key regulatory mechanisms but also paves the way for targeted investigations in the future, some of which are now actively being explored.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102312"},"PeriodicalIF":0.9,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144771852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2025-08-02DOI: 10.1016/j.genrep.2025.102313
Duaa K. Mohammed , Layla O. Farhan
{"title":"Investigation of NT-3 as a diagnostic indicator in beta thalassemia with emphasis on relationship with hemoglobin electrophoresis patterns","authors":"Duaa K. Mohammed , Layla O. Farhan","doi":"10.1016/j.genrep.2025.102313","DOIUrl":"10.1016/j.genrep.2025.102313","url":null,"abstract":"<div><div>Beta-thalassemia (β-TH) is a hereditary hemoglobinopathy that presents in various clinical forms, including major and intermedia. Emerging evidence suggests that neurotrophin-3 (NT-3), which is a key neurotrophic factor, may play a role in hematological and systemic responses to chronic anemia. This study quantified serum neurotrophin-3 (NT-3) levels in 120 subjects: 55 with (β-TH) major, 25 with β-TH intermedia, and 40 healthy control, using enzyme-linked immunosorbent assay (ELISA). NT-3 levels were significantly decreased in β-TH patients compared to controls (p < 0.001), with a progressive decline from controls to intermedia and major groups. The lower NT-3 levels in the intermedia group are attributed to irregular blood transfusions and inconsistent treatment adherence. Multivariate regression revealed no significant correlation between NT-3 and hemoglobin A2 or fetal hemoglobin. The receiver operating characteristic (ROC) curve analysis demonstrated a high diagnostic accuracy for NT-3 in distinguishing β-TH patients from controls (AUC = 0.998) with a cut-off value ≤1921.84 pg/mL. These findings highlight the potential role of NT-3 as a novel, non-invasive biomarker reflecting disease severity and hypoxia-related oxidative stress in β-TH.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102313"},"PeriodicalIF":0.9,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2025-07-30DOI: 10.1016/j.genrep.2025.102306
Indu Kumari, Santosh Kumar Tiwari
{"title":"UV-induced mutagenesis enhances bacteriocin production in Enterococcus hirae LD3: Genetic and structural characterization","authors":"Indu Kumari, Santosh Kumar Tiwari","doi":"10.1016/j.genrep.2025.102306","DOIUrl":"10.1016/j.genrep.2025.102306","url":null,"abstract":"<div><h3>Background</h3><div>Ultraviolet radiation is generally used to induce mutations in different bacterial genomes to understand structure-function relationship of metabolites. We have previously isolated bacteriocin-producing <em>Enterococcus hirae</em> LD3 from an indigenous fermented food and characterized for probiotic properties. Since bacteriocin production is a genetic phenomenon, we have used UV-radiation to generate mutants for bacteriocin production characterization.</div></div><div><h3>Methods</h3><div>Mutation was generated using UV radiation at 254 nm and mutants were screened using the level of bacteriocin production. Bacteriocin gene was amplified, sequenced, and phylogenetic and structure analysis was performed using MEGA-11 and I-TASSER software. The molecular docking of wild-type and mutant bacteriocins with target mannose phosphotransferase system (Man-PTS) was performed using BIOVIA discovery studio visualizer to understand the function.</div></div><div><h3>Results</h3><div>The mutant strain LD3UVM921 showed higher bacteriocin production (320 AU/mL) compared to wild-type strain LD3 (160 AU/mL). The bacteriocin gene showed a deletion of a cytosine residue and guanine to thymine and a cytosine to adenine transversion after UV exposure. The secondary structure of mutant bacteriocin LD3UVM921 was without alpha helix, 38.54 % beta-strand and 61.45 % random coil compared to 7.27 % alpha helix, 33.63 % beta-strand, and 59.09 % random coil in wild-type. The molecular docking analysis indicated higher binding affinity of mutant bacteriocin LD3UVM921 with Man-PTS compared to wild-type leading to higher bacteriocin activity.</div></div><div><h3>Conclusion</h3><div>The UV radiation successfully generated alteration in bacteriocin gene and affected its production level. The over-producing mutant of <em>E. hirae</em> LD3 may be used in food and pharmaceutical industries for large scale production of bacteriocin.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102306"},"PeriodicalIF":0.9,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gene ReportsPub Date : 2025-07-30DOI: 10.1016/j.genrep.2025.102307
Dolly J. Patel , Kinnari N. Mistry , Jasmine Gujarathi , Piyush Chudasama
{"title":"Genetic and hormonal insights into PCOS: Role of FSHR rs6166 and LHCGR rs2293275 polymorphisms","authors":"Dolly J. Patel , Kinnari N. Mistry , Jasmine Gujarathi , Piyush Chudasama","doi":"10.1016/j.genrep.2025.102307","DOIUrl":"10.1016/j.genrep.2025.102307","url":null,"abstract":"<div><h3>Background</h3><div>PCOS (Polycystic ovary syndrome) is an intricate endocrine condition characterized by abnormal metabolic processes, hormonal inconsistencies, and higher estrogen production. This study assessed the biochemical, hormonal, and genetic differences between individuals with PCOS and healthy controls, focusing on the <em>FSHR (Follicle-stimulating hormone receptor)</em> rs6166 and <em>LHCGR (luteinizing hormone-chorio-gonadotrophin receptor)</em> rs2293275 polymorphisms.</div></div><div><h3>Methods</h3><div>A comparative cross-sectional study was conducted with patients diagnosed with PCOS and healthy controls. Fasting glucose, insulin, SHBG, LH, FSH, estradiol, progesterone, total testosterone, and DHEAS levels were measured in both groups. Genotyping of <em>FSHR</em> (rs6166) and <em>LHCGR</em> (rs2293275) was conducted using PCR-RFLP. Statistical analyses included odds ratios, genotype distributions, and hormone-genotype interaction analysis.</div></div><div><h3>Results</h3><div>Participants with PCOS exhibited significantly higher levels of fasting glucose, insulin, LH, testosterone, and DHEAS, as well as lower levels of SHBG and FSH. The AA genotype of <em>FSHR</em> rs6166 is more common in patients with PCOS and is associated with a higher LH: FSH ratio, indicating a gonadotropin imbalance. In contrast, the GG genotype of <em>LHCGR</em> rs2293275 was associated with increased LH, decreased FSH, and higher testosterone levels, suggesting its role in hyperandrogenism.</div></div><div><h3>Conclusion</h3><div>This study emphasizes the notable endocrine and genetic differences in PCOS, implicating <em>FSHR</em> rs6166 and <em>LHCGR</em> rs2293275 polymorphisms in the susceptibility and severity of the disease. The AA genotype of <em>FSHR</em> is primarily associated with gonadotropic dysfunction, whereas the GG genotype of <em>LHCGR</em> is associated with increased androgen excess. These findings highlight the importance of combining genetic screening with hormonal profiling for better diagnosis and personalized management of PCOS.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102307"},"PeriodicalIF":0.9,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}